Genetic Test
Ichthyosis, commonly referred to as "fish scale disease," is a hereditary skin disorder characterized by thickened, scaly, and greasy patches on the skin.
The condition often resembles other dermatological issues such as allergies or dermatitis, particularly when the paw pads become thickened or irritated and begin to peel.
However, unlike many other skin conditions, dogs with ichthyosis typically do not show signs of itching or scab formation.
Affected dogs have impaired skin barrier function, making it difficult for their skin to retain moisture, which contributes to chronic dryness and scaling.
Disease Description
The PNPLA1 (Patatin-Like Phospholipase Domain Containing 1) gene encodes a protein involved in lipid metabolism, exhibiting various lipolytic activities.
This gene is specifically expressed in keratinocytes of the epidermis, where it plays a critical role in the formation and maintenance of the skin barrier through proper lipid processing.
Mutations in the PNPLA1 gene have been associated with ichthyosis in both humans and dogs, a skin disorder characterized by dry, thickened, and scaly skin.
This genetic test targets a specific PNPLA1 mutation linked to ichthyosis.
